UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129528806G>A | CA2607056 | RHO | c.73G>A (p.Glu25Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528806G>C | CA354495533 | RHO | c.73G>C (p.Glu25Gln) | dbSNP |
| 3 | g.129528806G= | CA1401205190 | RHO | c.73G= (p.Glu25=) | |
| 3 | g.129528806G>T | CA354495534 | RHO | c.73G>T (p.Glu25Ter) | |
| 3 | g.129528807A>C | CA354495538 | RHO | c.74A>C (p.Glu25Ala) | gnomAD v4 |
| 3 | g.129528807A>G | CA354495539 | RHO | c.74A>G (p.Glu25Gly) | |
| 3 | g.129528807A>T | CA354495543 | RHO | c.74A>T (p.Glu25Val) | |
| 3 | g.129528808G>A | CA435768877 | RHO | c.75G>A (p.Glu25=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528808G>C | CA354495548 | RHO | c.75G>C (p.Glu25Asp) | |
| 3 | g.129528808G= | CA1401205196 | RHO | c.75G= (p.Glu25=) | |
| 3 | g.129528808G>T | CA2607057 | RHO | c.75G>T (p.Glu25Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528809T>A | CA354495553 | RHO | c.76T>A (p.Tyr26Asn) | |
| 3 | g.129528809T>C | CA354495556 | RHO | c.76T>C (p.Tyr26His) | dbSNP |
| 3 | g.129528809T>G | CA354495557 | RHO | c.76T>G (p.Tyr26Asp) | |
| 3 | g.129528810A= | CA1401205201 | RHO | c.77A= (p.Tyr26=) | |
| 3 | g.129528810A>C | CA354495562 | RHO | c.77A>C (p.Tyr26Ser) | |
| 3 | g.129528810A>G | CA354495563 | RHO | c.77A>G (p.Tyr26Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528810A>T | CA354495561 | RHO | c.77A>T (p.Tyr26Phe) | |
| 3 | g.129528811C>A | CA354495564 | RHO | c.78C>A (p.Tyr26Ter) | dbSNP gnomAD v2 |
| 3 | g.129528811C= | CA1401205208 | RHO | c.78C= (p.Tyr26=) | |
| 3 | g.129528811C>G | CA354495565 | RHO | c.78C>G (p.Tyr26Ter) | dbSNP |
| 3 | g.129528811C>T | CA82646665 | RHO | c.78C>T (p.Tyr26=) | dbSNP |
| 3 | g.129528812C>A | CA82646677 | RHO | c.79C>A (p.Pro27Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528812C= | CA1401205215 | RHO | c.79C= (p.Pro27=) | |
| 3 | g.129528812C>G | CA354495566 | RHO | c.79C>G (p.Pro27Ala) | |
| 3 | g.129528812C>T | CA82646684 | RHO | c.79C>T (p.Pro27Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528813C>A | CA354495567 | RHO | c.80C>A (p.Pro27Gln) | |
| 3 | g.129528813C>G | CA354495568 | RHO | c.80C>G (p.Pro27Arg) | |
| 3 | g.129528813C>T | CA354495570 | RHO | c.80C>T (p.Pro27Leu) | |
| 3 | g.129528814A>C | CA435768878 | RHO | c.81A>C (p.Pro27=) | |
| 3 | g.129528814A>G | CA435768879 | RHO | c.81A>G (p.Pro27=) | dbSNP |
| 3 | g.129528814A>T | CA435768880 | RHO | c.81A>T (p.Pro27=) | |
| 3 | g.129528815C>A | CA354495572 | RHO | c.82C>A (p.Gln28Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528815C>G | CA354495577 | RHO | c.82C>G (p.Gln28Glu) | ClinVar |
| 3 | g.129528815C>T | CA354495578 | RHO | c.82C>T (p.Gln28Ter) | gnomAD v4 |
| 3 | g.129528816A= | CA1401205223 | RHO | c.83A= (p.Gln28=) | |
| 3 | g.129528816A>C | CA354495581 | RHO | c.83A>C (p.Gln28Pro) | |
| 3 | g.129528816A>G | CA354495583 | RHO | c.83A>G (p.Gln28Arg) | ClinVar dbSNP |
| 3 | g.129528816A>T | CA354495585 | RHO | c.83A>T (p.Gln28Leu) | |
| 3 | g.129528817G>A | CA435768881 | RHO | c.84G>A (p.Gln28=) | |
| 3 | g.129528817G>C | CA354495591 | RHO | c.84G>C (p.Gln28His) | |
| 3 | g.129528817G>T | CA354495588 | RHO | c.84G>T (p.Gln28His) | ClinVar dbSNP |
| 3 | g.129528818T>A | CA354495592 | RHO | c.85T>A (p.Tyr29Asn) | |
| 3 | g.129528818T>C | CA354495595 | RHO | c.85T>C (p.Tyr29His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528818T>G | CA354495608 | RHO | c.85T>G (p.Tyr29Asp) | |
| 3 | g.129528818T= | CA1401205228 | RHO | c.85T= (p.Tyr29=) | |
| 3 | g.129528819A= | CA1401205230 | RHO | c.86A= (p.Tyr29=) | |
| 3 | g.129528819A>C | CA354495611 | RHO | c.86A>C (p.Tyr29Ser) | |
| 3 | g.129528819A>G | CA354495615 | RHO | c.86A>G (p.Tyr29Cys) | ClinVar dbSNP |
| 3 | g.129528819A>T | CA354495617 | RHO | c.86A>T (p.Tyr29Phe) | |
| 3 | g.129528820C>A | CA354495618 | RHO | c.87C>A (p.Tyr29Ter) | |
| 3 | g.129528820C= | CA1401205239 | RHO | c.87C= (p.Tyr29=) | |
| 3 | g.129528820C>G | CA354495619 | RHO | c.87C>G (p.Tyr29Ter) | |
| 3 | g.129528820C>T | CA2607058 | RHO | c.87C>T (p.Tyr29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528821T>A | CA354495620 | RHO | c.88T>A (p.Tyr30Asn) | |
| 3 | g.129528821T>C | CA354495621 | RHO | c.88T>C (p.Tyr30His) | |
| 3 | g.129528821T>G | CA354495622 | RHO | c.88T>G (p.Tyr30Asp) | |
| 3 | g.129528822A>C | CA354495632 | RHO | c.89A>C (p.Tyr30Ser) | |
| 3 | g.129528822A>G | CA354495629 | RHO | c.89A>G (p.Tyr30Cys) | |
| 3 | g.129528822A>T | CA354495626 | RHO | c.89A>T (p.Tyr30Phe) | |
| 3 | g.129528823C>A | CA354495636 | RHO | c.90C>A (p.Tyr30Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528823C= | CA1401205265 | RHO | c.90C= (p.Tyr30=) | |
| 3 | g.129528823C>G | CA354495639 | RHO | c.90C>G (p.Tyr30Ter) | |
| 3 | g.129528823C>T | CA435768882 | RHO | c.90C>T (p.Tyr30=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528824C>A | CA354495644 | RHO | c.91C>A (p.Leu31Met) | |
| 3 | g.129528824C= | CA1401205273 | RHO | c.91C= (p.Leu31=) | |
| 3 | g.129528824C>G | CA2607059 | RHO | c.91C>G (p.Leu31Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528824C>T | CA435768883 | RHO | c.91C>T (p.Leu31=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528825T>A | CA354495647 | RHO | c.92T>A (p.Leu31Gln) | |
| 3 | g.129528825T>C | CA354495650 | RHO | c.92T>C (p.Leu31Pro) | ClinVar |
| 3 | g.129528825T>G | CA354495654 | RHO | c.92T>G (p.Leu31Arg) | |
| 3 | g.129528826G>A | CA435768884 | RHO | c.93G>A (p.Leu31=) | |
| 3 | g.129528826G>C | CA435768885 | RHO | c.93G>C (p.Leu31=) | |
| 3 | g.129528826G>T | CA435768886 | RHO | c.93G>T (p.Leu31=) | |
| 3 | g.129528827G>A | CA354495667 | RHO | c.94G>A (p.Ala32Thr) | |
| 3 | g.129528827G>C | CA354495674 | RHO | c.94G>C (p.Ala32Pro) | ClinVar dbSNP |
| 3 | g.129528827G= | CA1401205281 | RHO | c.94G= (p.Ala32=) | |
| 3 | g.129528827G>T | CA354495680 | RHO | c.94G>T (p.Ala32Ser) | |
| 3 | g.129528828C>A | CA354495685 | RHO | c.95C>A (p.Ala32Asp) | |
| 3 | g.129528828C>G | CA354495687 | RHO | c.95C>G (p.Ala32Gly) | |
| 3 | g.129528828C>T | CA354495691 | RHO | c.95C>T (p.Ala32Val) | |
| 3 | g.129528829T>A | CA435768887 | RHO | c.96T>A (p.Ala32=) | |
| 3 | g.129528829T>C | CA435768888 | RHO | c.96T>C (p.Ala32=) | dbSNP gnomAD v4 |
| 3 | g.129528829T>G | CA435768889 | RHO | c.96T>G (p.Ala32=) | dbSNP |
| 3 | g.129528829T= | CA1401205289 | RHO | c.96T= (p.Ala32=) | |
| 3 | g.129528830G>A | CA354495693 | RHO | c.97G>A (p.Glu33Lys) | gnomAD v4 |
| 3 | g.129528830G>C | CA354495698 | RHO | c.97G>C (p.Glu33Gln) | |
| 3 | g.129528830G>T | CA354495695 | RHO | c.97G>T (p.Glu33Ter) | |
| 3 | g.129528831A>C | CA354495699 | RHO | c.98A>C (p.Glu33Ala) | |
| 3 | g.129528831A>G | CA354495701 | RHO | c.98A>G (p.Glu33Gly) | |
| 3 | g.129528831A>T | CA354495703 | RHO | c.98A>T (p.Glu33Val) | |
| 3 | g.129528832G>A | CA435768890 | RHO | c.99G>A (p.Glu33=) | dbSNP gnomAD v4 |
| 3 | g.129528832G>C | CA354495705 | RHO | c.99G>C (p.Glu33Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528832G= | CA1401205295 | RHO | c.99G= (p.Glu33=) | |
| 3 | g.129528832G>T | CA354495707 | RHO | c.99G>T (p.Glu33Asp) | |
| 3 | g.129528833C>A | CA354495709 | RHO | c.100C>A (p.Pro34Thr) | |
| 3 | g.129528833C>G | CA354495713 | RHO | c.100C>G (p.Pro34Ala) | |
| 3 | g.129528833C>T | CA354495715 | RHO | c.100C>T (p.Pro34Ser) | gnomAD v4 COSMIC |
| 3 | g.129528834C>A | CA354495716 | RHO | c.101C>A (p.Pro34Gln) | |
| 3 | g.129528834C>G | CA354495717 | RHO | c.101C>G (p.Pro34Arg) | |
| 3 | g.129528834C>T | CA354495719 | RHO | c.101C>T (p.Pro34Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528835A= | CA1401205299 | RHO | c.102A= (p.Pro34=) | |
| 3 | g.129528835A>C | CA435768891 | RHO | c.102A>C (p.Pro34=) | |
| 3 | g.129528835A>G | CA435768892 | RHO | c.102A>G (p.Pro34=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528835A>T | CA435768893 | RHO | c.102A>T (p.Pro34=) | |
| 3 | g.129528836T>A | CA354495724 | RHO | c.103T>A (p.Trp35Arg) | |
| 3 | g.129528836T>C | CA354495726 | RHO | c.103T>C (p.Trp35Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528836T>G | CA354495722 | RHO | c.103T>G (p.Trp35Gly) | |
| 3 | g.129528836T= | CA1401205310 | RHO | c.103T= (p.Trp35=) | |
| 3 | g.129528837G>A | CA354495730 | RHO | c.104G>A (p.Trp35Ter) | |
| 3 | g.129528837G>C | CA354495729 | RHO | c.104G>C (p.Trp35Ser) | |
| 3 | g.129528837G>T | CA354495741 | RHO | c.104G>T (p.Trp35Leu) | |
| 3 | g.129528838G>A | CA82646715 | RHO | c.105G>A (p.Trp35Ter) | dbSNP |
| 3 | g.129528838G>C | CA354495746 | RHO | c.105G>C (p.Trp35Cys) | |
| 3 | g.129528838G= | CA1401205318 | RHO | c.105G= (p.Trp35=) | |
| 3 | g.129528838G>T | CA354495744 | RHO | c.105G>T (p.Trp35Cys) | |
| 3 | g.129528839C>A | CA2607060 | RHO | c.106C>A (p.Gln36Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528839C= | CA1401205322 | RHO | c.106C= (p.Gln36=) | |
| 3 | g.129528839C>G | CA354495748 | RHO | c.106C>G (p.Gln36Glu) | |
| 3 | g.129528839C>T | CA354495749 | RHO | c.106C>T (p.Gln36Ter) | ClinVar dbSNP |
| 3 | g.129528840A= | CA1401205334 | RHO | c.107A= (p.Gln36=) | |
| 3 | g.129528840A>C | CA354495752 | RHO | c.107A>C (p.Gln36Pro) | |
| 3 | g.129528840A>G | CA82646724 | RHO | c.107A>G (p.Gln36Arg) | dbSNP gnomAD v4 |
| 3 | g.129528840A>T | CA354495754 | RHO | c.107A>T (p.Gln36Leu) | gnomAD v4 COSMIC |
| 3 | g.129528841G>A | CA82646725 | RHO | c.108G>A (p.Gln36=) | dbSNP |
| 3 | g.129528841G>C | CA2607061 | RHO | c.108G>C (p.Gln36His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528841G= | CA1401205339 | RHO | c.108G= (p.Gln36=) | |
| 3 | g.129528841G>T | CA354495757 | RHO | c.108G>T (p.Gln36His) | |
| 3 | g.129528842T>A | CA354495758 | RHO | c.109T>A (p.Phe37Ile) | |
| 3 | g.129528842T>C | CA354495759 | RHO | c.109T>C (p.Phe37Leu) | |
| 3 | g.129528842T>G | CA354495761 | RHO | c.109T>G (p.Phe37Val) | |
| 3 | g.129528843T>A | CA354495768 | RHO | c.110T>A (p.Phe37Tyr) | |
| 3 | g.129528843T>C | CA354495766 | RHO | c.110T>C (p.Phe37Ser) | |
| 3 | g.129528843T>G | CA354495763 | RHO | c.110T>G (p.Phe37Cys) | |
| 3 | g.129528844C>A | CA354495769 | RHO | c.111C>A (p.Phe37Leu) | |
| 3 | g.129528844C>G | CA354495771 | RHO | c.111C>G (p.Phe37Leu) | |
| 3 | g.129528844C>T | CA435768894 | RHO | c.111C>T (p.Phe37=) | |
| 3 | g.129528845T>A | CA354495774 | RHO | c.112T>A (p.Ser38Thr) | |
| 3 | g.129528845T>C | CA354495777 | RHO | c.112T>C (p.Ser38Pro) | gnomAD v4 |
| 3 | g.129528845T>G | CA354495778 | RHO | c.112T>G (p.Ser38Ala) | |
| 3 | g.129528846C>A | CA354495779 | RHO | c.113C>A (p.Ser38Tyr) | |
| 3 | g.129528846C>G | CA354495780 | RHO | c.113C>G (p.Ser38Cys) | gnomAD v4 |
| 3 | g.129528846C>T | CA354495781 | RHO | c.113C>T (p.Ser38Phe) | |
| 3 | g.129528847C>A | CA435768895 | RHO | c.114C>A (p.Ser38=) | dbSNP gnomAD v4 |
| 3 | g.129528847C= | CA1401205347 | RHO | c.114C= (p.Ser38=) | |
| 3 | g.129528847C>G | CA435768896 | RHO | c.114C>G (p.Ser38=) | |
| 3 | g.129528847C>T | CA435768897 | RHO | c.114C>T (p.Ser38=) | |
| 3 | g.129528848A= | CA1401205357 | RHO | c.115A= (p.Met39=) | |
| 3 | g.129528848A>C | CA2607062 | RHO | c.115A>C (p.Met39Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528848A>G | CA354495783 | RHO | c.115A>G (p.Met39Val) | ClinVar |
| 3 | g.129528848A>T | CA354495784 | RHO | c.115A>T (p.Met39Leu) | |
| 3 | g.129528849T>A | CA354495792 | RHO | c.116T>A (p.Met39Lys) | |
| 3 | g.129528849T>C | CA354495789 | RHO | c.116T>C (p.Met39Thr) | |
| 3 | g.129528849T>G | CA354495787 | RHO | c.116T>G (p.Met39Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528849T= | CA1401205364 | RHO | c.116T= (p.Met39=) | |
| 3 | g.129528850G>A | CA354495795 | RHO | c.117G>A (p.Met39Ile) | |
| 3 | g.129528850G>C | CA354495796 | RHO | c.117G>C (p.Met39Ile) | |
| 3 | g.129528850G>T | CA354495797 | RHO | c.117G>T (p.Met39Ile) | |
| 3 | g.129528851C>A | CA354495801 | RHO | c.118C>A (p.Leu40Met) | |
| 3 | g.129528851C= | CA1401205370 | RHO | c.118C= (p.Leu40=) | |
| 3 | g.129528851C>G | CA354495803 | RHO | c.118C>G (p.Leu40Val) | gnomAD v4 |
| 3 | g.129528851C>T | CA2607063 | RHO | c.118C>T (p.Leu40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528852T>A | CA354495809 | RHO | c.119T>A (p.Leu40Gln) | |
| 3 | g.129528852T>C | CA354495811 | RHO | c.119T>C (p.Leu40Pro) | |
| 3 | g.129528852T>G | CA354495813 | RHO | c.119T>G (p.Leu40Arg) | |
| 3 | g.129528853G>A | CA435768898 | RHO | c.120G>A (p.Leu40=) | |
| 3 | g.129528853G>C | CA435768899 | RHO | c.120G>C (p.Leu40=) | |
| 3 | g.129528853G>T | CA435768900 | RHO | c.120G>T (p.Leu40=) | |
| 3 | g.129528854G>A | CA82646751 | RHO | c.121G>A (p.Ala41Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528854G>C | CA354495818 | RHO | c.121G>C (p.Ala41Pro) | |
| 3 | g.129528854G= | CA1401205371 | RHO | c.121G= (p.Ala41=) | |
| 3 | g.129528854G>T | CA354495819 | RHO | c.121G>T (p.Ala41Ser) | |
| 3 | g.129528855C>A | CA354495826 | RHO | c.122C>A (p.Ala41Asp) | |
| 3 | g.129528855C>G | CA354495823 | RHO | c.122C>G (p.Ala41Gly) | |
| 3 | g.129528855C>T | CA354495822 | RHO | c.122C>T (p.Ala41Val) | |
| 3 | g.129528856C>A | CA435768901 | RHO | c.123C>A (p.Ala41=) | dbSNP |
| 3 | g.129528856C= | CA1401205376 | RHO | c.123C= (p.Ala41=) | |
| 3 | g.129528856C>G | CA435768902 | RHO | c.123C>G (p.Ala41=) | |
| 3 | g.129528856C>T | CA2607064 | RHO | c.123C>T (p.Ala41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528856_129528857insAGGTAGTACTGT | CA2528031382 | RHO | c.123_124insAGGTAGTACTGT | |
| 3 | g.129528857G>A | CA2607065 | RHO | c.124G>A (p.Ala42Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528857G>C | CA354495831 | RHO | c.124G>C (p.Ala42Pro) | |
| 3 | g.129528857G= | CA1401205381 | RHO | c.124G= (p.Ala42=) | |
| 3 | g.129528857G>T | CA354495832 | RHO | c.124G>T (p.Ala42Ser) | |
| 3 | g.129528857_129528860dup | CA2667615084 | RHO | c.124_127dup (p.Tyr43CysfsTer?) | gnomAD v4 |
| 3 | g.129528858C>A | CA354495834 | RHO | c.125C>A (p.Ala42Asp) | |
| 3 | g.129528858C>G | CA354495836 | RHO | c.125C>G (p.Ala42Gly) | |
| 3 | g.129528858C>T | CA354495842 | RHO | c.125C>T (p.Ala42Val) | gnomAD v4 |
| 3 | g.129528859C>A | CA435768903 | RHO | c.126C>A (p.Ala42=) | |
| 3 | g.129528859C>G | CA435768904 | RHO | c.126C>G (p.Ala42=) | dbSNP |
| 3 | g.129528859C>T | CA435768905 | RHO | c.126C>T (p.Ala42=) | |
| 3 | g.129528860T>A | CA354495843 | RHO | c.127T>A (p.Tyr43Asn) | |
| 3 | g.129528860T>C | CA354495845 | RHO | c.127T>C (p.Tyr43His) | |
| 3 | g.129528860T>G | CA354495847 | RHO | c.127T>G (p.Tyr43Asp) | |
| 3 | g.129528861A= | CA1401205384 | RHO | c.128A= (p.Tyr43=) | |
| 3 | g.129528861A>C | CA354495848 | RHO | c.128A>C (p.Tyr43Ser) | |
| 3 | g.129528861A>G | CA2607066 | RHO | c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528861A>T | CA354495851 | RHO | c.128A>T (p.Tyr43Phe) | |
| 3 | g.129528862C>A | CA354495854 | RHO | c.129C>A (p.Tyr43Ter) | |
| 3 | g.129528862C>G | CA354495860 | RHO | c.129C>G (p.Tyr43Ter) | |
| 3 | g.129528862C>T | CA435768907 | RHO | c.129C>T (p.Tyr43=) | gnomAD v4 |
| 3 | g.129528863A= | CA1401205391 | RHO | c.130A= (p.Met44=) | |
| 3 | g.129528863A>C | CA354495864 | RHO | c.130A>C (p.Met44Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528863A>G | CA354495868 | RHO | c.130A>G (p.Met44Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528863A>T | CA354495866 | RHO | c.130A>T (p.Met44Leu) | |
| 3 | g.129528864T>A | CA354495871 | RHO | c.131T>A (p.Met44Lys) | |
| 3 | g.129528864T>C | CA2607067 | RHO | c.131T>C (p.Met44Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528864T>G | CA354495873 | RHO | c.131T>G (p.Met44Arg) | |
| 3 | g.129528864T= | CA1401205396 | RHO | c.131T= (p.Met44=) | |
| 3 | g.129528865G>A | CA354495876 | RHO | c.132G>A (p.Met44Ile) | gnomAD v4 |
| 3 | g.129528865G>C | CA354495878 | RHO | c.132G>C (p.Met44Ile) | |
| 3 | g.129528865G= | CA1401205400 | RHO | c.132G= (p.Met44=) | |
| 3 | g.129528865G>T | CA354495880 | RHO | c.132G>T (p.Met44Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528866T>A | CA354495882 | RHO | c.133T>A (p.Phe45Ile) | |
| 3 | g.129528866T>C | CA256666 | RHO | c.133T>C (p.Phe45Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528866T>G | CA354495884 | RHO | c.133T>G (p.Phe45Val) | |
| 3 | g.129528866T= | CA1401205403 | RHO | c.133T= (p.Phe45=) | |
| 3 | g.129528867T>A | CA354495886 | RHO | c.134T>A (p.Phe45Tyr) | |
| 3 | g.129528867T>C | CA354495888 | RHO | c.134T>C (p.Phe45Ser) | |
| 3 | g.129528867T>G | CA354495889 | RHO | c.134T>G (p.Phe45Cys) | |
| 3 | g.129528868T>A | CA354495891 | RHO | c.135T>A (p.Phe45Leu) | |
| 3 | g.129528868T>C | CA435768908 | RHO | c.135T>C (p.Phe45=) | dbSNP |
| 3 | g.129528868T>G | CA354495894 | RHO | c.135T>G (p.Phe45Leu) | |
| 3 | g.129528869C>A | CA354495899 | RHO | c.136C>A (p.Leu46Met) | |
| 3 | g.129528869C>G | CA354495902 | RHO | c.136C>G (p.Leu46Val) | |
| 3 | g.129528869C>T | CA435768909 | RHO | c.136C>T (p.Leu46=) | |
| 3 | g.129528870T>A | CA354495903 | RHO | c.137T>A (p.Leu46Gln) | |
| 3 | g.129528870T>C | CA354495904 | RHO | c.137T>C (p.Leu46Pro) | |
| 3 | g.129528870T>G | CA354495905 | RHO | c.137T>G (p.Leu46Arg) | ClinVar dbSNP |
| 3 | g.129528870T= | CA1401205410 | RHO | c.137T= (p.Leu46=) | |
| 3 | g.129528871G>A | CA435768910 | RHO | c.138G>A (p.Leu46=) | gnomAD v4 |
| 3 | g.129528871G>C | CA435768911 | RHO | c.138G>C (p.Leu46=) | |
| 3 | g.129528871G>T | CA435768912 | RHO | c.138G>T (p.Leu46=) | |
| 3 | g.129528872C>A | CA354495906 | RHO | c.139C>A (p.Leu47Met) | |
| 3 | g.129528872C= | CA1401205415 | RHO | c.139C= (p.Leu47=) | |
| 3 | g.129528872C>G | CA354495907 | RHO | c.139C>G (p.Leu47Val) | |
| 3 | g.129528872C>T | CA435768914 | RHO | c.139C>T (p.Leu47=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528873T>A | CA354495908 | RHO | c.140T>A (p.Leu47Gln) | |
| 3 | g.129528873T>C | CA354495909 | RHO | c.140T>C (p.Leu47Pro) | |
| 3 | g.129528873T>G | CA354495910 | RHO | c.140T>G (p.Leu47Arg) | |
| 3 | g.129528874G>A | CA435768915 | RHO | c.141G>A (p.Leu47=) | |
| 3 | g.129528874G>C | CA435768916 | RHO | c.141G>C (p.Leu47=) | dbSNP |
| 3 | g.129528874G>T | CA435768917 | RHO | c.141G>T (p.Leu47=) | |
| 3 | g.129528875A>C | CA354495911 | RHO | c.142A>C (p.Ile48Leu) | |
| 3 | g.129528875A>G | CA354495913 | RHO | c.142A>G (p.Ile48Val) | |
| 3 | g.129528875A>T | CA354495914 | RHO | c.142A>T (p.Ile48Phe) | |
| 3 | g.129528876T>A | CA354495915 | RHO | c.143T>A (p.Ile48Asn) | |
| 3 | g.129528876T>C | CA354495918 | RHO | c.143T>C (p.Ile48Thr) | COSMIC |
| 3 | g.129528876T>G | CA354495916 | RHO | c.143T>G (p.Ile48Ser) | |
| 3 | g.129528877C>A | CA435768919 | RHO | c.144C>A (p.Ile48=) | gnomAD v4 |
| 3 | g.129528877C= | CA1401205420 | RHO | c.144C= (p.Ile48=) | |
| 3 | g.129528877C>G | CA354495921 | RHO | c.144C>G (p.Ile48Met) | gnomAD v4 |
| 3 | g.129528877C>T | CA2607068 | RHO | c.144C>T (p.Ile48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129528878G>A | CA2607069 | RHO | c.145G>A (p.Val49Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528878G>C | CA354495924 | RHO | c.145G>C (p.Val49Leu) | |
| 3 | g.129528878G= | CA1401205426 | RHO | c.145G= (p.Val49=) | |
| 3 | g.129528878G>T | CA354495926 | RHO | c.145G>T (p.Val49Leu) | |
| 3 | g.129528879T>A | CA354495928 | RHO | c.146T>A (p.Val49Glu) | |
| 3 | g.129528879T>C | CA354495929 | RHO | c.146T>C (p.Val49Ala) | |
| 3 | g.129528879T>G | CA354495931 | RHO | c.146T>G (p.Val49Gly) | |
| 3 | g.129528880G>A | CA435768922 | RHO | c.147G>A (p.Val49=) | |
| 3 | g.129528880G>C | CA435768923 | RHO | c.147G>C (p.Val49=) | |
| 3 | g.129528880G>T | CA435768924 | RHO | c.147G>T (p.Val49=) | |
| 3 | g.129528881C>A | CA354495932 | RHO | c.148C>A (p.Leu50Met) | |
| 3 | g.129528881C>G | CA354495933 | RHO | c.148C>G (p.Leu50Val) | |
| 3 | g.129528881C>T | CA435768925 | RHO | c.148C>T (p.Leu50=) | gnomAD v4 |
| 3 | g.129528882T>A | CA354495935 | RHO | c.149T>A (p.Leu50Gln) | |
| 3 | g.129528882T>C | CA354495937 | RHO | c.149T>C (p.Leu50Pro) | dbSNP |
| 3 | g.129528882T>G | CA354495941 | RHO | c.149T>G (p.Leu50Arg) | |
| 3 | g.129528882T= | CA1401205436 | RHO | c.149T= (p.Leu50=) | |
| 3 | g.129528883G>A | CA435768927 | RHO | c.150G>A (p.Leu50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528883G>C | CA435768928 | RHO | c.150G>C (p.Leu50=) | |
| 3 | g.129528883G= | CA1401205443 | RHO | c.150G= (p.Leu50=) | |
| 3 | g.129528883G>T | CA435768929 | RHO | c.150G>T (p.Leu50=) | |
| 3 | g.129528884G>A | CA354495942 | RHO | c.151G>A (p.Gly51Ser) | |
| 3 | g.129528884G>C | CA256687 | RHO | c.151G>C (p.Gly51Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528884G= | CA1401205449 | RHO | c.151G= (p.Gly51=) | |
| 3 | g.129528884G>T | CA354495943 | RHO | c.151G>T (p.Gly51Cys) | dbSNP |
| 3 | g.129528885G>A | CA354495946 | RHO | c.152G>A (p.Gly51Asp) | |
| 3 | g.129528885G>C | CA2607070 | RHO | c.152G>C (p.Gly51Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528885G= | CA1401205458 | RHO | c.152G= (p.Gly51=) | |
| 3 | g.129528885G>T | CA354495947 | RHO | c.152G>T (p.Gly51Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129528886C>A | CA435768930 | RHO | c.153C>A (p.Gly51=) | |
| 3 | g.129528886C>G | CA435768931 | RHO | c.153C>G (p.Gly51=) | |
| 3 | g.129528886C>T | CA435768932 | RHO | c.153C>T (p.Gly51=) | gnomAD v4 |
| 3 | g.129528887T>A | CA354495948 | RHO | c.154T>A (p.Phe52Ile) | |
| 3 | g.129528887T>C | CA82646800 | RHO | c.154T>C (p.Phe52Leu) | dbSNP |
| 3 | g.129528887T>G | CA354495950 | RHO | c.154T>G (p.Phe52Val) | |
| 3 | g.129528887T= | CA1401205473 | RHO | c.154T= (p.Phe52=) | |
| 3 | g.129528888T>A | CA354495952 | RHO | c.155T>A (p.Phe52Tyr) | gnomAD v4 |
| 3 | g.129528888T>C | CA354495954 | RHO | c.155T>C (p.Phe52Ser) | |
| 3 | g.129528888T>G | CA354495955 | RHO | c.155T>G (p.Phe52Cys) | |
| 3 | g.129528889C>A | CA354495958 | RHO | c.156C>A (p.Phe52Leu) | |
| 3 | g.129528889C>G | CA354495960 | RHO | c.156C>G (p.Phe52Leu) | |
| 3 | g.129528889C>T | CA435768935 | RHO | c.156C>T (p.Phe52=) | |
| 3 | g.129528890C>A | CA354495964 | RHO | c.157C>A (p.Pro53Thr) | |
| 3 | g.129528890C>G | CA354495966 | RHO | c.157C>G (p.Pro53Ala) | |
| 3 | g.129528890C>T | CA354495963 | RHO | c.157C>T (p.Pro53Ser) | |
| 3 | g.129528891C>A | CA354495970 | RHO | c.158C>A (p.Pro53His) | |
| 3 | g.129528891C= | CA1401205481 | RHO | c.158C= (p.Pro53=) | |
| 3 | g.129528891C>G | CA256682 | RHO | c.158C>G (p.Pro53Arg) | ClinVar dbSNP |
| 3 | g.129528891C>T | CA354495973 | RHO | c.158C>T (p.Pro53Leu) | gnomAD v4 |
| 3 | g.129528892C>A | CA435768936 | RHO | c.159C>A (p.Pro53=) | |
| 3 | g.129528892C>G | CA435768937 | RHO | c.159C>G (p.Pro53=) | |
| 3 | g.129528892C>T | CA435768938 | RHO | c.159C>T (p.Pro53=) | |
| 3 | g.129528893A= | CA1401205486 | RHO | c.160A= (p.Ile54=) | |
| 3 | g.129528893A>C | CA354495975 | RHO | c.160A>C (p.Ile54Leu) | |
| 3 | g.129528893A>G | CA2607071 | RHO | c.160A>G (p.Ile54Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528893A>T | CA354495978 | RHO | c.160A>T (p.Ile54Phe) | |
| 3 | g.129528894T>A | CA354495980 | RHO | c.161T>A (p.Ile54Asn) | |
| 3 | g.129528894T>C | CA354495983 | RHO | c.161T>C (p.Ile54Thr) | |
| 3 | g.129528894T>G | CA354495985 | RHO | c.161T>G (p.Ile54Ser) | |
| 3 | g.129528894_129528895insA | CA2569537985 | RHO | c.161_162insA (p.Asn55GlnfsTer29) | |
| 3 | g.129528895C>A | CA435768940 | RHO | c.162C>A (p.Ile54=) | |
| 3 | g.129528895C>G | CA354495986 | RHO | c.162C>G (p.Ile54Met) | |
| 3 | g.129528895C>T | CA435768941 | RHO | c.162C>T (p.Ile54=) | |
| 3 | g.129528896A>C | CA354495987 | RHO | c.163A>C (p.Asn55His) | |
| 3 | g.129528896A>G | CA354495988 | RHO | c.163A>G (p.Asn55Asp) | gnomAD v4 |
| 3 | g.129528896A>T | CA354495989 | RHO | c.163A>T (p.Asn55Tyr) | |
| 3 | g.129528897A>C | CA354495991 | RHO | c.164A>C (p.Asn55Thr) | |
| 3 | g.129528897A>G | CA354495992 | RHO | c.164A>G (p.Asn55Ser) | gnomAD v4 |
| 3 | g.129528897A>T | CA354495998 | RHO | c.164A>T (p.Asn55Ile) | |
| 3 | g.129528898C>A | CA354495999 | RHO | c.165C>A (p.Asn55Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528898C= | CA1401205490 | RHO | c.165C= (p.Asn55=) | |
| 3 | g.129528898C>G | CA354496002 | RHO | c.165C>G (p.Asn55Lys) | ClinVar dbSNP |
| 3 | g.129528898C>T | CA435768943 | RHO | c.165C>T (p.Asn55=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129528899T>A | CA354496005 | RHO | c.166T>A (p.Phe56Ile) | |
| 3 | g.129528899T>C | CA354496006 | RHO | c.166T>C (p.Phe56Leu) | |
| 3 | g.129528899T>G | CA354496008 | RHO | c.166T>G (p.Phe56Val) | |
| 3 | g.129528900T>A | CA354496010 | RHO | c.167T>A (p.Phe56Tyr) | |
| 3 | g.129528900T>C | CA354496016 | RHO | c.167T>C (p.Phe56Ser) | |
| 3 | g.129528900T>G | CA354496019 | RHO | c.167T>G (p.Phe56Cys) | |
| 3 | g.129528901C>A | CA354496023 | RHO | c.168C>A (p.Phe56Leu) | |
| 3 | g.129528901C>G | CA354496025 | RHO | c.168C>G (p.Phe56Leu) | |
| 3 | g.129528901C>T | CA435768945 | RHO | c.168C>T (p.Phe56=) | |
| 3 | g.129528902C>A | CA354496028 | RHO | c.169C>A (p.Leu57Ile) | |
| 3 | g.129528902C>G | CA354496029 | RHO | c.169C>G (p.Leu57Val) | |
| 3 | g.129528902C>T | CA354496030 | RHO | c.169C>T (p.Leu57Phe) | dbSNP |
| 3 | g.129528903T>A | CA354496032 | RHO | c.170T>A (p.Leu57His) | |
| 3 | g.129528903T>C | CA354496033 | RHO | c.170T>C (p.Leu57Pro) | |
| 3 | g.129528903T>G | CA354496031 | RHO | c.170T>G (p.Leu57Arg) | |
| 3 | g.129528904C>A | CA435768946 | RHO | c.171C>A (p.Leu57=) | |
| 3 | g.129528904C= | CA1401205493 | RHO | c.171C= (p.Leu57=) | |
| 3 | g.129528904C>G | CA435768948 | RHO | c.171C>G (p.Leu57=) | |
| 3 | g.129528904C>T | CA2607072 | RHO | c.171C>T (p.Leu57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528905A>C | CA354496036 | RHO | c.172A>C (p.Thr58Pro) | |
| 3 | g.129528905A>G | CA354496037 | RHO | c.172A>G (p.Thr58Ala) | |
| 3 | g.129528905A>T | CA354496040 | RHO | c.172A>T (p.Thr58Ser) | |
| 3 | g.129528905_129528906delinsAC | CA1401205498 | RHO | c.172_173delinsAC (p.Thr58=) | |
| 3 | g.129528905_129528906delinsTA | CA916082603 | RHO | c.172_173delinsTA (p.Thr58Ter) | ClinVar dbSNP |
| 3 | g.129528906C>A | CA354496045 | RHO | c.173C>A (p.Thr58Lys) | gnomAD v4 |
| 3 | g.129528906C= | CA1401205509 | RHO | c.173C= (p.Thr58=) | |
| 3 | g.129528906C>G | CA256664 | RHO | c.173C>G (p.Thr58Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129528906C>T | CA2607073 | RHO | c.173C>T (p.Thr58Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |